Literature DB >> 15572824

Central core disease.

Sheffali Gulati1, Amandeep Salhotra, M C Sharma, Chitra Sarkar, Veena Kalra.   

Abstract

Central core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and presence of central cores on muscle biopsy. It generally presents during infancy. It is familial with autosomal dominant inheritance [Chromosome 19q13.1; Gene Locus RyR1 (Ryanodine receptor gene)]. We report here two cases of central core disease in a 3-year-old male child and 8 year old female child.

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Year:  2004        PMID: 15572824     DOI: 10.1007/bf02828119

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  4 in total

1.  Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers.

Authors:  A G Engel; M R Gomez; R V Groover
Journal:  Mayo Clin Proc       Date:  1971-10       Impact factor: 7.616

2.  The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

Authors:  M S Phillips; J Fujii; V K Khanna; S DeLeon; K Yokobata; P J de Jong; D H MacLennan
Journal:  Genomics       Date:  1996-05-15       Impact factor: 5.736

3.  Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

Authors:  H Jungbluth; C R Müller; B Halliger-Keller; M Brockington; S C Brown; L Feng; A Chattopadhyay; E Mercuri; A Y Manzur; A Ferreiro; N G Laing; M R Davis; H P Roper; V Dubowitz; G Bydder; C A Sewry; F Muntoni
Journal:  Neurology       Date:  2002-07-23       Impact factor: 9.910

4.  Common origin of rods, cores, miniature cores, and focal loss of cross-striations.

Authors:  J Bethlem; W F Arts; K P Dingemans
Journal:  Arch Neurol       Date:  1978-09
  4 in total
  1 in total

1.  Core Disease in an Adult.

Authors:  Ashmeet Kaur; Kusum Mathur; Anita Harsh
Journal:  Ann Indian Acad Neurol       Date:  2022-07-14       Impact factor: 1.714

  1 in total

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